Possible Test Results

Normal result

In most cases, the results are normal, that is, babies do not have the diseases screened for. If the results are normal, you will not be contacted. So don’t worry: no news is good news!

However, you may be contacted if a second blood or urine sample is needed. It’s nothing to be alarmed about. It might just mean that the first sample was unusable. Follow the instructions you are given.

Abnormal result

Sometimes screening test results are abnormal, but this does not necessarily mean that the baby has a disease. If the results are abnormal, you will be contacted around 1 to 2 weeks after the sample is taken. You will quickly be directed to a referral centre for more advanced tests. If they confirm the presence of a disease, your baby will receive the care he needs.

Sometimes a disease that is not screened for is discovered during advanced testing. In this case, the child will receive medical follow-up for this disease.

If you have questions about the test results, contact the hospital centre responsible for testing and test results follow-up:

Blood screening
Centre hospitalier universitaire de Québec – Université Laval
Toll-free line: 1 855 654-2103

Urine screening
Centre intégré universitaire de santé et de services sociaux de l’Estrie – Centre hospitalier universitaire de Sherbrooke
Toll-free line: 1 855 905-5253

Carrier status

Screening tests or some more advanced tests may reveal that your child is a carrier of a defective gene associated, for example, with sickle-cell anemia or cystic fibrosis without, however, being affected by the disease. 

You should know that as a healthy carrier, your child is not sick, is not at risk of developing the disease and does not require any particular follow-up. However, once he reaches adulthood, he could pass the disease on to his children if he is in a relationship with someone who carries the same defective gene.

In the case of hemoglobin diseases, such as sickle-cell anemia, parents can find out their child’s carrier status by filling out a request form This hyperlink will open in a new window..

If your child is a carrier, there is a strong possibility that one of the parents is also a carrier. Tests will be offered to both parents to find out if you could pass the disease on to any future children.

To find out more about the characteristics of someone who is a carrier of a defective gene associated with a disease, go to the page A recessive hereditary disease.

If you are still worried about your child’s health, tell your doctor. He will be able to determine if another assessment is necessary.

Limitations and disadvantages of screening

Despite being highly effective, screening has limitations. Although rare, these situations can occur:

  • your child has one of the diseases screened for, but it was not detected;
  • the diagnosis is difficult to confirm and the doctors need to see your child several times for further testing;
  • your child may develop certain complications associated with the disease detected even if treatment was started early;
  • preventive treatment was started for your child, whereas advanced testing confirms that your child does not have the disease and is healthy. Treatment is stopped, but you will have been worried about your child’s health.